What you carry at this position in your DNA and what research says about it.
DNA Repair and Cancer Risk: 6/10 evidence, 60 publications.
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Sample genotype (not yours): A/A
Higher Cancer Risk and Poorer Chemotherapy Response
This genotype is linked to an increased risk of several cancers and a less favorable response to platinum-based chemotherapy.
What this genotype means: Increased risk of lung, breast, and ovarian cancers; Poorer response to platinum-based chemotherapies; Higher risk of severe chemotherapy side effects.
Sample genotype (not yours): A/G
Better Chemotherapy Response but Higher Cancer Risk
This genotype presents a trade-off, showing a better response to platinum-based chemotherapy alongside a slightly increased risk of certain cancers.
What this genotype means: Slightly increased risk of breast and lung cancers; Improved response to platinum-based chemotherapy; Moderate risk of chemotherapy-induced toxicities.
Sample genotype (not yours): G/G
Lower Cancer Risk and Better Chemotherapy Response
This genotype is associated with a lower risk of developing several cancers, including lung and breast cancer. It also correlates with a more favorable response to platinum-based chemotherapy.
What this genotype means: Lower risk of lung, breast, and ovarian cancers; Favorable response to platinum-based chemotherapy; Reduced risk of severe chemotherapy side effects.
Gene function and biological role
Gene Function: The ERCC1 gene encodes a crucial component of the nucleotide excision repair pathway, which is responsible for repairing DNA damage caused by UV radiation and chemical mutagens [1]. This protein forms a heterodimer with XPF to act as an endonuclease that cuts damaged DNA strands [2]. Proper functioning of this pathway is essential for maintaining genomic stability and preventing carcinogenesis [1]. It also plays a major role in repairing DNA damage caused by platinum-based chemotherapeutic agents [3].
Variant Impact: This synonymous variant, rs11615, is located in codon 118 of the ERCC1 gene and does not alter the amino acid sequence [2]. Despite being synonymous, it can influence mRNA stability, translation efficiency, and overall ERCC1 expression levels [4]. Altered expression of ERCC1 directly impacts the cell's capacity to repair DNA damage [5]. Consequently, this variant is widely studied for its role in cancer susceptibility and individual sensitivity to chemotherapy [1].
Key Insight: Even though this genetic change is synonymous and does not alter the protein sequence, it significantly impacts how well the body repairs DNA and responds to chemotherapy.
Location: ERCC1. Chromosome 19 · 19q13.32 · 45.4 Mb
Estimated prevalence by population
Global 24.8%; European 39.3%; African 1.6%; East Asian 6.9%; South Asian 20.9%; Americas 16.3%; Ashkenazi 36.4%; Finnish 40.7%; Middle Eastern 31.5%; Amish 27.2%.
Estimated AA genotype frequency.
Global 39.9%; European 46.8%; African 21.9%; East Asian 38.8%; South Asian 49.6%; Americas 48.2%; Ashkenazi 47.8%; Finnish 46.2%; Middle Eastern 49.3%; Amish 49.9%.
Estimated AG genotype frequency.
Global 35.3%; European 13.9%; African 76.5%; East Asian 54.2%; South Asian 29.5%; Americas 35.5%; Ashkenazi 15.7%; Finnish 13.1%; Middle Eastern 19.3%; Amish 22.8%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cancer & Oncology
Lung Cancer
Lung Cancer. Evidence: 4/10. Source: PMID 19361884. Increased Risk.
Breast Cancer
Breast Cancer. Evidence: 4/10. Source: PMID 23909490. Increased Risk.
Pharmacogenomics
Chemotherapy Response
Chemotherapy Response. Evidence: 6/10. Source: PMID 37141338. Poorer Response.
Chemotherapy Toxicity. Evidence: 6/10. Source: PMID 30973677. Increased Toxicity.
Showing effects for A/G genotype
Lung Cancer. Evidence: 4/10. Source: PMID 19361884. Slightly Increased.
Chemotherapy Response. Evidence: 6/10. Source: PMID 37141338. Stronger Response.
Chemotherapy Toxicity. Evidence: 6/10. Source: PMID 30973677. Moderate Toxicity.
Showing effects for G/G genotype
Lung Cancer. Evidence: 4/10. Source: PMID 19361884. Typical Risk.
Breast Cancer. Evidence: 4/10. Source: PMID 23909490. Typical Risk.
Chemotherapy Toxicity. Evidence: 6/10. Source: PMID 30973677. Lower Toxicity.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele (equivalent to the T/T genotype) is associated with reduced DNA repair efficiency. This impairment can lead to the accumulation of DNA damage, increasing the risk of developing lung cancer [1], breast cancer [2], and ovarian cancer [3]. In oncology settings, this genotype is frequently associated with a poorer response to platinum-based chemotherapeutic regimens [4]. Patients with this genotype also face a significantly higher risk of severe chemotherapy-induced toxicities, such as febrile neutropenia and mucosal inflammation [5]. These outcomes highlight the critical role of ERCC1-mediated DNA repair in both preventing cancer and determining treatment tolerability [1].
Increased risk of lung, breast, and ovarian cancers; Poorer response to platinum-based chemotherapies; Higher risk of severe chemotherapy side effects.
Sample genotype: AG (Heterozygous)
Carrying one copy of the A allele and one copy of the G allele (equivalent to the T/C genotype) results in intermediate DNA repair characteristics. Research suggests that this genotype is associated with an increased risk of breast cancer [1] and lung cancer [2]. However, if undergoing cancer treatment, individuals with this genotype often experience a better therapeutic response to platinum-based drugs compared to those with the A/A genotype [3]. This benefit is accompanied by a higher likelihood of experiencing chemotherapy-related side effects, such as anemia or kidney damage [4]. The balance between DNA repair efficiency and susceptibility to cellular damage underlies these contrasting clinical outcomes [5].
Slightly increased risk of breast and lung cancers; Improved response to platinum-based chemotherapy; Moderate risk of chemotherapy-induced toxicities.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele (equivalent to the C allele on the opposite strand) is generally considered protective against several malignancies. Clinical studies indicate that this genotype is associated with a lower risk of lung cancer, particularly in non-smokers [1]. It also correlates with a reduced risk of breast cancer [2] and ovarian cancer [3]. In the context of cancer treatment, individuals with this genotype often show a better response to platinum-based chemotherapies like cisplatin and oxaliplatin [4]. Furthermore, they exhibit a lower risk of severe chemotherapy-related toxicities, such as kidney damage or severe neutropenia [5]. This is thought to be driven by optimal DNA repair capacity maintained by the typical ERCC1 protein expression [1].
Lower risk of lung, breast, and ovarian cancers; Favorable response to platinum-based chemotherapy; Reduced risk of severe chemotherapy side effects.
Variants with shared genetic architecture
rs3212986 · ERCC1 Gene · Chr 19 · DNA Repair and Cancer Risk
rs2298881 · ERCC1 Gene · Chr 19 · DNA Repair and Cancer Risk
rs1799782 · XRCC1 Gene · Chr 19 · Cancer Risk
Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population.
Content updated August 2026.
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